A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658594



Internal ID21606899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125706440..125706440hg38UCSC Ensembl
chr12:126190986..126190986hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077921
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658594
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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